(The following information has been generously contributed by Dr Susanne Blichfeldt, Paediatrician and Scientific Adviser to the International PWS Organisation, and is taken from her powerpoint presentation. This will give a general idea as to the health indicators in a person with PW syndrome. Use it as a checklist - it's a very helpful synopsis to have on hand as your son or daughter reaches maturity.)

With no intervening treatment such as growth hormone, or sex hormone treatment, in general, after 18 years of age the mean height of women is 148 cm; men 156 cm, or approximately 14cm shorter than siblings; puberty is incomplete. Before age 30 they look younger: after age 30, they look older.

This is due to sex steroid & GHT deficiency

What is more obvious:

Many are overweight

Many wear glasses

Many have back and joint problems

Some have problems with oedema (fluid retention) and skin (dry, picking, sensitive)

What is less obvious:

Osteoporosis – up to 90% above age 30

Diabetes – mostly Type II

Heart and circulation problems

Respiratory problems

Stomach problems including constipation

Sleep problems

What we need to know:

There will be different reactions to some medications

Different temperature sensitivity

Temperature instability

Different pain reaction

Different sleep pattern

Different behaviour and psychology

Increased risk in psychiatric behaviours

Eyes and Teeth

The need for glasses can come early

Optician needs to be consulted every 2-3 years

First teeth often have weak enamel. Second teeth can be strong.

Sticky saliva means more brushing needed

Dentist every 6 months

The back:

KYPHOSES (curvature of neck and spine) because of weak neck and back muscles

Exercises can prevent permanent kyphoses

SCOLIOSIS (‘S’ curvature of spine)

Brace or operation needed

Legs and Feet

There are often problems with hips, knees, feet - giving pain and having water retention

Caused by overweight and weak muscles

Feet: many walk on outer edges, some need special soles in shoes to prevent pain and worsening ‘turn out’

The Skin

Skin is ‘weak’ and bruises easily

Skin is fair – increased risk of sunburn

Skinpicking – something particularly ‘PW’

Use bandaids, aloe vera, soft gloves, keep nails short

Keep hands busy!

Praise often for healed skin

Prevent infection

Osteoporosis

Seen in 90% after age 30 (USA)

Seen in 30% adults after age 18 (UK)

Caused from lack of sex steroids and growth hormone

Risk of fractures – often overlooked

Special scanning can show osteoporosis

There is a need for Vitamin D and Calcium

Heart and Circulation

Overweight is a disease risk factor

Future GHT could be useful influence

Circulation problems with Oedema

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Respiratory

Usually no lung disease, but can have small lung volumes

GHT has good influence, with deeper breathing

Apnoea –pauses in breathing – important to have this checked

May need sleep mask (CPAP) to help breathing when asleep

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Stomach and Intestines

Possible weak intra-abdominal muscles

Be aware of acute gastric dilation

Can happen from overeating

Particularly if person is on GHT, this can be fatal if unnoticed

Be aware of a dilated abdomen, vomiting, paleness, and refusal to eat

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Other Intestinal Problems

Gallstones

Constipation

Bleeding from rectum (picking?)

Gastric banding for overweight – in PWS this is exceedingly dangerous with risk of bursting, internal toxicity, death

Gastroparesis

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Diabetes

More often Type II which comes with overweight

Can be inherited if in family

Treatment:

Medication, weight reduction and diet

Once weight reduced, medication can be lowered or ceased

Untreated is a great health risk: eyes, kidneys, heart

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Hormone Deficiency

As they reach adulthood, sex hormone therapy for males and females needs to be considered – seek advice from an endocrinologist

Growth hormone – as a child – see advice from your paediatrician

These hormone therapies are based on individual evaluation

They will help prevent brittle bones, and early aging

Also be aware there can be a Thyroid hormone deficiency

Medical Checklist

For PWS, include checks for

Weight: monitoring weight is the most important

Monitor blood pressure,

Have checks for respiratory (breathing), especially for sleep apnoea

Have regular heart checks

Watch for oedema (water retention),

Keep an eye on dry skin, and skinpicking

Regular visits to dentist,

Excess weight can put pressure on joints,

The spine should be checked for scoliosis and kyphosis

Blood tests for diabetes

Blood tests for hormone therapies

Expert advice from a Dietician

Help from a Physiotherapist when needed

Counsellor – talking about your concerns can help a person with PWS… it can also help the parent or caregiver.